Comparative

OMIA group 991

Androgen insensitivity syndrome (AIS)

The chain reaches the human disease androgen insensitivity syndrome, which Mondo defines as: “Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 7 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.84.

  5. Drugs

    Reached

    42 ChEMBL drugs, 22 approved. None has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

androgen insensitivity syndrome

51.9 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.84 29.4 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 5 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted 10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
Burton's mouthbrooder Genetically engineered, not naturally occurring. Not counted in the score. Haplochromis burtoni OMIA:000991-8153 Yes
chicken Genetically engineered, not naturally occurring. Not counted in the score. Gallus gallus OMIA:000991-9031 Yes
dog Canis lupus familiaris OMIA:000991-9615 Yes
domestic cat Felis catus OMIA:000991-9685 Yes
domestic cattle Bos taurus OMIA:000991-9913 Yes
horse Equus caballus OMIA:000991-9796 Yes
pig Sus scrofa OMIA:000991-9823 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
Burton's mouthbrooder AR alpha Androgen receptor alpha No NCBI Gene identifier in OMIA.
Burton's mouthbrooder AR beta Androgen receptor beta No NCBI Gene identifier in OMIA.
chicken AR androgen receptor NCBI Gene 422165 AR Ensembl one to one
dog No gene OMIA records no gene for this species entry.
domestic cat No gene OMIA records no gene for this species entry.
domestic cattle No gene OMIA records no gene for this species entry.
horse AR androgen receptor NCBI Gene 100033980 Ensembl does not know this NCBI Gene identifier.
pig No gene OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0019154 androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Both routes

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
AR androgen insensitivity syndrome 0.84 1,730 Genetic association 0.98 Genetic literature 0.77 Literature 0.75 Animal model 0.40

Drugs

Drugs act on AR, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Abiraterone AR antagonist Approved No
Apalutamide AR antagonist Approved No
Bicalutamide AR antagonist Approved No
Clascoterone AR antagonist Approved No
Cyproterone Acetate AR antagonist Approved No
Danazol AR agonist Approved No
Darolutamide AR antagonist Approved No
Enzalutamide AR antagonist Approved No
Ethylestrenol AR agonist Approved No
Fluoxymesterone AR agonist Approved No
Flutamide AR antagonist Approved No
Methandrostenolone AR agonist Approved No
Methyltestosterone AR agonist Approved No
Nilutamide AR antagonist Approved No
Oxandrolone AR agonist Approved No
Oxymetholone AR agonist Approved No
Stanozolol AR agonist Approved No
Testosterone AR agonist Approved No
Testosterone Cypionate AR agonist Approved No
Testosterone Enanthate AR agonist Approved No
Testosterone Propionate AR agonist Approved No
Testosterone Undecanoate AR agonist Approved No
Enobosarm AR modulator Phase 3 No
Galeterone AR antagonist Phase 3 No
Nandrolone Decanoate AR agonist Phase 3 No
Pruxelutamide AR antagonist Phase 3 No
Rezvilutamide AR antagonist Phase 3 No
Cr 1447 AR agonist Phase 2 No
Dimethylcurcumin AR degrader Phase 2 No
Gsk2881078 AR modulator Phase 2 No
He3235 AR modulator Phase 2 No
Ly2452473 AR modulator Phase 2 No
Mk-0773 AR modulator Phase 2 No
Seviteronel AR antagonist Phase 2 No
Vk5211 AR modulator Phase 2 No
Apc-100 AR antagonist Phase 1/2 No
Azd3514 AR modulator Phase 1 No
Glpg0492 AR modulator Phase 1 No
Gsk2849466 AR modulator Phase 1 No
Lgd-2941 AR modulator Phase 1 No
Dromostanolone Propionate AR agonist Unknown No
Nandrolone Phenpropionate AR agonist Unknown No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.